"Ambry Genetics"[submitter] AND "BMPER"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1429321	NM_001365308.1(BMPER):c.46C>A (p.Arg16Ser)	BMPER (R16S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2485467	NM_001365308.1(BMPER):c.47G>T (p.Arg16Leu)	BMPER (R16L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623687	NM_001365308.1(BMPER):c.49C>T (p.Arg17Cys)	BMPER (R17C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284658	NM_001365308.1(BMPER):c.89A>G (p.Asn30Ser)	BMPER (N30S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1399303	NM_001365308.1(BMPER):c.106A>G (p.Met36Val)	BMPER (M36V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2325237	NM_001365308.1(BMPER):c.107T>G (p.Met36Arg)	BMPER (M36R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3261201	NM_001365308.1(BMPER):c.142G>T (p.Ala48Ser)	BMPER (A48S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134588	NM_001365308.1(BMPER):c.195C>A (p.Asn65Lys)	BMPER (N65K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208125	NM_001365308.1(BMPER):c.232A>G (p.Thr78Ala)	BMPER (T78A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379065	NM_001365308.1(BMPER):c.256G>A (p.Val86Met)	BMPER (V86M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134592	NM_001365308.1(BMPER):c.362G>T (p.Trp121Leu)	BMPER (W121L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551254	NM_001365308.1(BMPER):c.415A>G (p.Thr139Ala)	BMPER (T139A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275820	NM_001365308.1(BMPER):c.437T>C (p.Val146Ala)	BMPER (V146A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2065704	NM_001365308.1(BMPER):c.505G>A (p.Glu169Lys)	BMPER (E169K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2478357	NM_001365308.1(BMPER):c.685A>C (p.Lys229Gln)	BMPER (K229Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1379602	NM_001365308.1(BMPER):c.860A>G (p.Glu287Gly)	BMPER (E287G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2312875	NM_001365308.1(BMPER):c.961A>G (p.Ile321Val)	BMPER (I321V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1903525	NM_001365308.1(BMPER):c.995G>A (p.Arg332His)	BMPER (R332H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3261203	NM_001365308.1(BMPER):c.1033G>A (p.Gly345Ser)	BMPER (G345S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600002	NM_001365308.1(BMPER):c.1049G>C (p.Arg350Thr)	BMPER (R350T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1679888	NM_001365308.1(BMPER):c.1124T>C (p.Phe375Ser)	BMPER (F375S)	Single nucleotide variant (missense variant)	Diaphanospondylodysostosis +1 more	GUncertain significance
Select item 1427910	NM_001365308.1(BMPER):c.1129G>C (p.Gly377Arg)	BMPER (G377R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1706313	NM_001365308.1(BMPER):c.1202T>C (p.Phe401Ser)	BMPER (F401S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3261202	NM_001365308.1(BMPER):c.1226C>T (p.Ala409Val)	BMPER (A409V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302076	NM_001365308.1(BMPER):c.1294C>G (p.Leu432Val)	BMPER (L432V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1355406	NM_001365308.1(BMPER):c.1306C>T (p.Leu436Phe)	BMPER (L436F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2367367	NM_001365308.1(BMPER):c.1351G>A (p.Ala451Thr)	BMPER (A451T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515675	NM_001365308.1(BMPER):c.1435A>G (p.Ser479Gly)	BMPER (S369G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1402282	NM_001365308.1(BMPER):c.1438T>C (p.Phe480Leu)	BMPER (F480L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 908340	NM_001365308.1(BMPER):c.1514G>A (p.Arg505His)	BMPER (R505H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3134586	NM_001365308.1(BMPER):c.1603A>G (p.Asn535Asp)	BMPER (N425D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1443343	NM_001365308.1(BMPER):c.1673G>A (p.Arg558Gln)	BMPER (R558Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2071571	NM_001365308.1(BMPER):c.1686G>T (p.Lys562Asn)	BMPER (K452N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2301365	NM_001365308.1(BMPER):c.1819C>T (p.Arg607Trp)	BMPER (R497W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134587	NM_001365308.1(BMPER):c.1880C>T (p.Thr627Ile)	BMPER (T627I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2178212	NM_001365308.1(BMPER):c.1900G>C (p.Val634Leu)	BMPER (V634L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3134589	NM_001365308.1(BMPER):c.1966A>G (p.Asn656Asp)	BMPER (N546D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2187928	NM_001365308.1(BMPER):c.1973C>T (p.Pro658Leu)	BMPER (P548L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 360119	NM_001365308.1(BMPER):c.1978G>A (p.Val660Ile)	BMPER (V660I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3134590	NM_001365308.1(BMPER):c.1979T>C (p.Val660Ala)	BMPER (V550A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134591	NM_001365308.1(BMPER):c.2017A>G (p.Lys673Glu)	BMPER (K563E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 41